A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5465719



Internal ID243575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:76743529..76745080hg38UCSC Ensembl
chr4:77664682..77666233hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg381552
hg191552
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16952372
Samples
Known GenesSHROOM3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5465719
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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